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Achondroplasia complications

Although complications may resolve over time, anticipatory management may help mitigate serious, otherwise unexpected health consequences. Explore the possible implications of achondroplasia below.​

Familiarize yourself with the affected systems

Short stature is a measurable characteristic of achondroplasia, and complications can develop as a result of impaired bone growth. This includes broader health implications such as delayed motor development, chronic otitis media, and sleep disordered breathing in childhood, and spinal stenosis, chronic pain, and mobility issues in adults, just to name a few.

Measurable characteristic of achondroplasia

While there is no impact on cognitive functioning, children with achondroplasia are faced with musculoskeletal, otolaryngological, neurological and spinal complications, some of which may require surgery to be corrected.1-3

Make sure you’re prepared

The most effective management of achondroplasia means anticipating specific complications at every stage of development.

Hear from specialists

Common achondroplasia complications that may result in an individual’s lifetime

Keep these complications top-of-mind to help give families a perspective of what to watch out for2-9

Sleep disordered breathing

Affects >50% of people with achondroplasia

Genu varum (tibial bowing)

Can affect walking and running

Symptomatic spinal stenosis

Can lead to leg weakness, incontinence, and chronic pain

Chronic pain

Can result in loss of mobility

Lumbar hyperlordosis

May require physical therapy

Otitis media

Affects up to 70% of children

Dental issues

Crowded teeth and a narrow upper jaw may lead to a crossbite

Elbow stiffness

Limits range of motion

Obesity

Can lead to high blood pressure or heart disease

Achondroplasia complications over a lifetime

Although complications may resolve over time, anticipatory management may help mitigate serious, otherwise unexpected health consequences. Explore the below preparations that could be made to combat the effects of achondroplasia.

Infants

Impaired bone growth affects the entire body, and its impact on the size and shape of the foramen magnum can lead to cervicomedullary compression. This can put infants at risk for sudden death, making regular monitoring, management, and timely referrals crucial for this stage.2,3,7,10-16

It is important to keep an eye on complications that can quickly—and quietly—progress.

Download the Complication Timeline Resource

  • Central sleep apnea
    Can contribute to learning and developmental delays
  • Delayed developmental milestones
    Gross motor delays related to hypotonia and speech delays due to acute and chronic otitis media
  • Upper airway obstruction
    Can appear at any age, but is more frequent at younger ages
  • Hypotonia
    Can delay motor skills
  • Recurrent otitis media
    Midface hypolasia, shortened Eustachian tubes, and a small pharynx may contribute to development. Can begin in infancy and lead to conductive hearing loss in the first year
  • Foramen magnum stenosis
    Diminished size of the cranial base can lead to sudden and fatal complications (cervicomedullary compression)

Toddlers

In addition to the continued risk of sudden death due to cervicomedullary compression, toddlers may experience Achondroplasiadevelopmental delays and other complications that will require familial expectation-setting and potential surgical intervention.2,5,7,11-14,17-20

  • Upper airway obstruction
    Can appear at any age, but is more frequent at younger ages
  • Kyphosis
    Exaggerated outward curve of the spine—requires special attention to posture while sitting
  • Genu varum
    Disproportionate growth of the tibia and fibula can lead to tibial bowing, which is often progressive
  • Speech difficulties
    Incidence of delayed speech and problems in articulation occur in ~20% of children with achondroplasia
  • Recurrent otitis media
    Midface hypoplasia, shortened Eustachian tubes, and a small pharynx can begin in infancy and lead to conductive hearing loss
  • Foramen magnum stenosis
    Diminished size of the cranial base can lead to sudden and fatal complications (cervicomedullary compression)

Children

Throughout their childhood, it’s important to keep an eye out for otolaryngologic, respiratory, and orthopedic issues that have the potential to delay developmental milestones if left untreated. Cognition is not affected in most.2,7,13,19,20-24

At this age, the psychosocial impact of achondroplasia (depression, anxiety, isolation) can begin to impact school performance and social interaction.20,25

  • Psychosocial impact
    Learn more about the emotional impact of achondroplasia
  • Orthodontic issues
    Differential growth of the cranial base can lead to malocclusion. Crowded teeth and a narrow upper jaw may lead to a crossbite
  • Lumbar hyperlordosis
    Exaggerated curve at the top of the spine. May appear before age 5
  • Obesity
    Directly linked to sleep apnea and cardiovascular disease later in life
  • Functional challenges
    Learn more about the functional challenges of achondroplasia
  • Genu varum
    Disproportionate growth of the tibia and fibula, which can lead to tibial bowing, is often progressive in childhood but can resolve with skeletal maturity. Often surgically corrected in childhood, but as many as 40% of adults with achondroplasia may still have significant tibial bowing which can contribute to pain
  • Reduced muscle strength
    May be significantly reduced in dorsal extensors of the wrist, hip flexors, knee extensors, and dorsal flexors of the foot, which can cause delayed developmental milestones such as gross motor delay
  • Sleep disordered breathing
    Obstructive sleep apnea is the most common respiratory disorder in children with achondroplasia
  • Recurrent otitis media
    Can begin in infancy and lead to conductive hearing loss during childhood

Teenagers

Teenage years are a time of great transition for everyone, and while certain medical complications may persist, the functional and emotional implications of living with achondroplasia may become more pronounced. Working with parents, caregivers, and teenagers to address all challenges holistically throughout this time is essential to promoting independence and strong self-esteem.2,5,7,25

Managing both the psychosocial impact and functional challenges of achondroplasia can help in making a smooth transition into adulthood, including higher education pursuits and establishing healthy social networks.

  • Psychosocial impact
    Learn more about the emotional impact of achondroplasia
  • Lumbar spinal stenosis
    Most people with achondroplasia will deal with this to some degree—surgical intervention is not always necessary
  • Chronic pain
    May limit participation in social activities, ongoing education, and activities of daily life
  • Functional challenges
    Learn more about the functional challenges of achondroplasia
  • Speech difficulties
    Delayed speech and problems with articulation remain constant during the adolescent years
  • Hearing impairments
    Incidence of hearing loss in children <18 years with achondroplasia is ~25%

Adults

As a person with achondroplasia reaches adulthood, some medical complications may resolve, but others may become more serious and life-threatening. Facilitating a relationship between your patient and the other specialists in their care team is a crucial part of ongoing management. Anticipatory management of this lifelong impact can help mitigate its severity.2,3,7-9,17,26,27

  • Psychosocial impact
    Learn more about the emotional impact of achondroplasia
  • Lumbar spinal stenosis
    Can lead to leg weakness, incontinence, and chronic pain
  • Mortality
    Over time, cardiovascular complications can lead to lower life expectancy
  • Osteoporosis
    Lower bone mineral density (bone fragility) may result from decreased physical activity
  • Obesity
    One of the most prevalent and critical factors in adulthood is obesity, which is directly linked to sleep apnea and cardiovascular disease
  • Functional challenges
    Learn more about the functional challenges of achondroplasia

Care must also consider functional challenges and psychosocial impact

Children with achondroplasia may face both functional and psychosocial challenges, especially as they enter school and transition into puberty. Setting expectations will better equip parents to support their child’s needs.2,18,20

  • Communication milestones (words, sentences), learning, and performance at school can be impacted by speech delay due to hearing loss (otitis media) or the progressive impact of sleep apnea3,16
  • Development milestones for gross and fine motor skills can be affected by length of fingers and trident shape of hands3,30
  • Functional impairment can result in limited mobility and independence18
  • Restricted access to body for bathing, toileting, and other personal care18,20
  • Social participation may be hindered due to anxiety or diminished self-esteem and can contribute to isolation25
  • Functional challenges are often overcome through environmental adaptations or special tools, such as pedal extenders for driving2

In achondroplasia, complications are not thought to affect cognitive development13,21

A young boy with Achondroplasia sitting at a table doing homework

Understanding a lifetime of management over time

Achondroplasia can be overwhelming if foreseeable complications are not properly planned for. It is important to coordinate care with a multidisciplinary team of specialists that proactively manages complications to ensure better patient outcomes.2,4

Download your Care Team Worksheet

mother sat reading with child with Achodroplasia

Managing Achondroplasia

Primary care providers can help to coordinate a multidisciplinary approach to care

Learn more about achondroplasia management

worksheet

Your Care Team Worksheet

It is important to coordinate care with a multidisciplinary team of specialists that proactively manages complications2,4

Download your Care Team Worksheet

Test your knowledge

Referring patients to a mental health professional is likely not necessary prior to adulthood.

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References:

  1. Ireland PJ, Pacey V, Zankl A, Edwards P, Johnston LM, Savarirayan R. Optimal management of complications associated with achondroplasia. Appl Clin Genet. 2014;7:117-125. Published online June 24, 2014.
  2. Hoover-Fong J, Scott CI, Jones MC; Committee on Genetics. Health supervision for people with achondroplasia. Pediatrics. 2020;145(6):e20201010.
  3. Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 2019;14(1):1.
  4. Unger S, Bonafé L, Gouze E. Current care and investigational therapies in achondroplasia. Curr Osteoporos Rep. 2017;15(2):53-60.
  5. Shirley ED, Ain MC. Achondroplasia: manifestations and treatment. J Am Acad Orthop Surg. 2009;17(4):231-241.
  6. Ain MC, Abdullah MA, Ting BL, et al. Progression of low back and lower extremity pain in a cohort of patients with achondroplasia. J Neurosurg Spine. 2010;13(3):335-340.
  7. Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr. Medical complications of achondroplasia: a multicentre patient review. J Med Genet. 1998;35(9):705-712.
  8. Hecht JT, Hood OJ, Schwartz RJ, Hennessey JC, Bernhardt BA, Horton WA. Obesity in achondroplasia. Am J Med Genet. 1988;31(3):597-602.
  9. Fredwall SO, Maanum G, Johansen H, Snekkevik H, Savarirayan R, Lidal IB. Current knowledge of medical complications in adults with achondroplasia: a scoping review. Clin Genet. 2020;97(1):179-197.
  10. Ednick M, Tinkle BT, Phromchairak J, Egelhoff J, Amin R, Simakajornboon N. Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy. J Pediatr. 2009;155(4):510-515.
  11. Hecht JT, Horton WA, Reid CS, Pyeritz RE, Chakraborty R. Growth of the foramen magnum in achondroplasia. Am J Med Genet. 1989;32(4):528-535.
  12. Julliand S, Boulé M, Baujat G, et al. Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia. Am J Med Genet A. 2012;158A(8):1987-1993.
  13. Brinkmann G, Schlitt H, Zorowka P, Spranger J. Cognitive skills in achondroplasia. Am J Med Genet. 1993;47(5):800-804.
  14. Tunkel D, Alade Y, Kerbavaz R, Smith B, Rose-Hardison D, Hoover-Fong J. Hearing loss in skeletal dysplasia patients. Am J Med Genet A. 2012;158A(7):1551-1555.
  15. Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007;370(9582):162-172.
  16. Ireland PJ, Johnson S, Donaghey S, et al. Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr. 2010;31(1):41-47.
  17. Hecht JT, Francomano CA, Horton WA, Annegers JF. Mortality in achondroplasia. Am J Hum Genet. 1987;41(3):454-464.
  18. Ireland PJ, McGill J, Zankl A, et al. Functional performance in young Australian children with achondroplasia. Dev Med Child Neurol. 2011;53(10):944-950.
  19. Stanley G, McLoughlin S, Beals RK. Observations on the cause of bowlegs in achondroplasia. J Pediatr Orthop. 2002;22(1):112-116.
  20. Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012;97(2):129-134.
  21. Galasso C, Siracusano M, El Malhany N, Cerminara C, Pitzianti M, Terribili M. Cognitive phenotype and language skills in children with achondroplasia. Minerva Pediatr. 2019;71(4):343-348.
  22. Afsharpaiman S, Saburi A, Waters KA. Respiratory difficulties and breathing disorders in achondroplasia. Paediatr Respir Rev. 2013;14(4):250-255.
  23. Takken T, van Bergen MW, Sakkers RJ, Helders PJ, Engelbert RH. Cardiopulmonary exercise capacity, muscle strength, and physical activity in children and adolescents with achondroplasia. J Pediatr. 2007;150(1):26-30.
  24. Lee ST, Song HR, Mahajan R, Makwana V, Suh SW, Lee SH. Development of genu varum in achondroplasia: relation to fibular overgrowth. J Bone Joint Surg Br. 2007;89(1):57-61.
  25. Thompson S, Shakespeare T, Wright MJ. Medical and social aspects of the life course for adults with a skeletal dysplasia: a review of current knowledge. Disabil Rehabil. 2008;30(1):1-12.
  26. Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT. Mortality in achondroplasia study: a 42-year follow-up. Am J Med Genet A. 2007;143A:2502-2511.
  27. Taşoğlu Ö, Şahin Onat Ş, Yenigün D, Doğan Aslan M, Nakipoğlu GF, Ozgirgin N. Low bone density in achondroplasia. Clin Rheumatol. 2014;33(5):733-735.
  28. Vivanti AJ, Cordier AG, Baujat G, Benachi A. Abnormal pelvic morphology and high cervical length are responsible for high-risk pregnancies in women displaying achondroplasia. Orphanet J Rare Dis. 2016;11(1):166.
  29. Allanson JE, Hall JG. Obstetric and gynecologic problems in women with chondrodystrophies. Obstet Gynecol. 1986;67(1):74-78.
  30. Legare JM. Achondroplasia. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews® [Internet]. Seattle: University of Washington, Seattle; 1993-2020. October 12, 1998 [Updated August 6, 2020]. https://www.ncbi.nlm.nih.gov/books/NBK1152.

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